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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking NEK9 and ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11522809 (Homo sapiens)
  • 1 RGD objects have been annotated to ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  (DOID:9008794)
  • 2 papers in RGD have been used to annotate NEK9
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy
  • Original References(s): PMID:26633546


  • An association has been curated linking NEK9 and ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  (DOID:9008794)
  • 2 papers in RGD have been used to annotate NEK9


  • An association has been curated linking NEK9 and ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:126728223 (Homo sapiens)
  • 1 RGD objects have been annotated to ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  (DOID:9008794)
  • 2 papers in RGD have been used to annotate NEK9
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy
  • Original References(s): PMID:25741868


  • An association has been curated linking NEK9 and ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:15173574 (Homo sapiens)
  • 1 RGD objects have been annotated to ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  (DOID:9008794)
  • 2 papers in RGD have been used to annotate NEK9
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking NEK9 and ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:126730374 (Homo sapiens)
  • 1 RGD objects have been annotated to ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  (DOID:9008794)
  • 2 papers in RGD have been used to annotate NEK9
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy
  • Original References(s): PMID:25741868


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